M38R (p.Met38Arg) variant of AGXT (P21549)
M38R (p.Met38Arg) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M38R (p.Met38Arg) variant details
- p.Met38Arg
- ExAC rs780905277
- TOPMed rs780905277
- gnomAD rs780905277
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 4.66
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.86